Fulminant myocardial bleeding: another clinical course of vascular Ehlers-Danlos Syndrome

per Tokue, Masahide, Hara, Hidehiko, Kurosawa, Kenji, Nakamura, Masato
Publicat a BMJ Case Rep (2017)

A case of prenatal chronic intestinal pseudo‐obstruction associated with Leigh syndrome

per Itai, Toshiyuki, Ishikawa, Hiroshi, Kurosawa, Kenji, Tsuyusaki, Yu
Publicat a Clin Case Rep (2018)

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy

per Yokoi, Takayuki, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kurosawa, Kenji
Publicat a Hum Genome Var (2018)

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

per Yokoi, Takayuki, Enomoto, Yumi, Naruto, Takuya, Kurosawa, Kenji, Higurashi, Norimichi
Publicat a Hum Genome Var (2020)

A Japanese girl with mild xeroderma pigmentosum group D neurological disease diagnosed using whole-exome sequencing

per Yokoi, Takayuki, Enomoto, Yumi, Uehara, Tomoko, Kosaki, Kenjiro, Kurosawa, Kenji
Publicat a Hum Genome Var (2020)

Refining the clinical phenotype of Okur–Chung neurodevelopmental syndrome

per Akahira-Azuma, Moe, Tsurusaki, Yoshinori, Enomoto, Yumi, Mitsui, Jun, Kurosawa, Kenji
Publicat a Hum Genome Var (2018)

Comprehensive clinical studies in 34 patients with molecularly defined UPD(14)pat and related conditions (Kagami–Ogata syndrome)

per Kagami, Masayo, Kurosawa, Kenji, Miyazaki, Osamu, Ishino, Fumitoshi, Matsuoka, Kentaro, Ogata, Tsutomu
Publicat a Eur J Hum Genet (2015)

Intellectual disability-associated gain-of-function mutations in CERT1 that encodes the ceramide transport protein CERT

per Murakami, Hiroaki, Tamura, Norito, Enomoto, Yumi, Shimasaki, Kentaro, Kurosawa, Kenji, Hanada, Kentaro
Publicat a PLoS One (2020)

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

per Tsurusaki, Yoshinori, Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Mitsui, Jun, Aida, Noriko, Kurosawa, Kenji
Publicat a Hum Genome Var (2017)

Arthrogryposis multiplex congenita with polymicrogyria and infantile encephalopathy caused by a novel GRIN1 variant

per Nishimura, Naoto, Kumaki, Tatsuro, Murakami, Hiroaki, Enomoto, Yumi, Katsumata, Kaoru, Toyoshima, Katsuaki, Kurosawa, Kenji
Publicat a Hum Genome Var (2020)

Analysis of GBE1 mutations via protein expression studies in glycogen storage disease type IV: A report on a non-progressive form with a literature review

per Iijima, Hiroyuki, Iwano, Reiko, Tanaka, Yukichi, Muroya, Koji, Fukuda, Tokiko, Sugie, Hideo, Kurosawa, Kenji, Adachi, Masanori
Publicat a Mol Genet Metab Rep (2018)

Diamond-Blackfan anemia caused by chromosome 1p22 deletion encompassing RPL5

per Tominaga, Makiko, Hamanoue, Satoshi, Goto, Hiroaki, Saito, Toshiyuki, Nagai, Jun-ichi, Masuno, Mitsuo, Umeda, You, Kurosawa, Kenji
Publicat a Hum Genome Var (2019)

Diagnostic utility of integrated analysis of exome and transcriptome: Successful diagnosis of Au‐Kline syndrome in a patient with submucous cleft palate, scaphocephaly, and intelle...

per Yamada, Mamiko, Shiraishi, Yuichi, Uehara, Tomoko, Suzuki, Hisato, Takenouchi, Toshiki, Abe‐Hatano, Chihiro, Kurosawa, Kenji, Kosaki, Kenjiro
Publicat a Mol Genet Genomic Med (2020)

Biallelic mutations of EGFR in a compound heterozygous state cause ectodermal dysplasia with severe skin defects and gastrointestinal dysfunction

per Hayashi, Shion, Yokoi, Takayuki, Hatano, Chihiro, Enomoto, Yumi, Tsurusaki, Yoshinori, Naruto, Takuya, Kobayashi, Masahisa, Ida, Hiroyuki, Kurosawa, Kenji
Publicat a Hum Genome Var (2018)

A Recurrent Variant in POLR1B, c.3007C>T; p.Arg1003Cys, Associated with Atresia of the External Canal and Microtia in Treacher Collins Syndrome Type 4

per Enomoto, Yumi, Tsurusaki, Yoshinori, Tominaga, Makiko, Kobayashi, Shinji, Inoue, Maki, Fujita, Kazutoshi, Kumaki, Tatsuro, Murakami, Hiroaki, Kurosawa, Kenji
Publicat a Mol Syndromol (2021)

Novel COL4A1 mutation in a fetus with early prenatal onset of schizencephaly

per Sato, Yota, Shibasaki, Jun, Aida, Noriko, Hiiragi, Kazuya, Kimura, Yuichi, Akahira-Azuma, Moe, Enomoto, Yumi, Tsurusaki, Yoshinori, Kurosawa, Kenji
Publicat a Hum Genome Var (2018)

Discordant phenotype caused by CASK mutation in siblings with NF1

per Murakami, Hiroaki, Kimura, Yuichi, Enomoto, Yumi, Tsurusaki, Yoshinori, Akahira-Azuma, Moe, Kuroda, Yukiko, Tsuji, Megumi, Goto, Tomohide, Kurosawa, Kenji
Publicat a Hum Genome Var (2019)

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

per Sasaki, Masayuki, Sumitomo, Noriko, Shimizu‐Motohashi, Yuko, Takeshita, Eri, Kurosawa, Kenji, Kosaki, Kenjiro, Iwama, Kazuhiro, Mizuguchi, Takeshi, Matsumoto, Naomichi
Publicat a Dev Med Child Neurol (2020)

Haploinsufficiency of BCL11A associated with cerebellar abnormalities in 2p15p16.1 deletion syndrome

per Shimbo, Hiroko, Yokoi, Takayuki, Aida, Noriko, Mizuno, Seiji, Suzumura, Hiroshi, Nagai, Junichi, Ida, Kazumi, Enomoto, Yumi, Hatano, Chihiro, Kurosawa, Kenji
Publicat a Mol Genet Genomic Med (2017)

A severe form of Ellis-van Creveld syndrome caused by novel mutations in EVC2

per Ohashi, Ikuko, Enomoto, Yumi, Naruto, Takuya, Tsurusaki, Yoshinori, Kuroda, Yukiko, Ishikawa, Hiroshi, Ohyama, Makiko, Aida, Noriko, Nishimura, Gen, Kurosawa, Kenji
Publicat a Hum Genome Var (2019)